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Familial Frontotemporal Dementia-Associated Presenilin-1 c.548G>T Mutation Causes Decreased mRNA Expression and Reduced Presenilin Function in Knock-In Mice
Mutations in the presenilin-1 (PSEN1) gene are associated with familial Alzheimer's disease and frontotemporal dementia (FTD). Interestingly, neuropathological analysis of a Belgian FTD family carrying a PSEN1 c.548G>T mutation confirmed neurodegeneration in the absence of amyloid plaques. T...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3340902/ https://ncbi.nlm.nih.gov/pubmed/22496554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0317-12.2012 |
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